Cri Du Chat Syndrome Essay

469 Words2 Pages
Cri-du-chat Syndrome Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy. Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face. Some children with cri-du-chat syndrome are born with a heart defect. 1. Is cri du chat syndrome inherited? A deletion is caused by a break in the DNA molecule that makes up a chromosome. Most cases of cri du chat syndrome are not inherited. The chromosomal deletion usually occurs as a random…show more content…
How is I diagnosed? It is also possible to test for cri-du-chat (and other chromosomal abnormalities) before the baby is born. Testing can be done either (1) on a tiny sample of tissue from outside the sac where the baby develops (chorionic villus sampling (CVS)), or (2) on a sample of the amniotic fluid that surrounds the baby (amniocentesis). A more detailed type of genetic test could be performed which is called FISH analysis which can reveal the deletion. 3. What are the symptoms? The clinical symptoms of cri du chat syndrome usually include a high-pitched cat-like cry, mental retardation, delayed development, distinctive facial features, small head size (microcephaly), widely-spaced eyes (hypertelorism), low birth weight and weak muscle tone (hypotonia) in infancy. The cat-like cry typically becomes less apparent with time. 4. How the symptoms are treated? Although there is no real treatment for cri-du-chat syndrome, children with the disorder can go through therapy to improve their language skills, motor skills, and to help them develop as normally as

More about Cri Du Chat Syndrome Essay

Open Document